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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2614928465
Gene: FOLR1
HGNC
NCBI
Linked Data
gnomAD v4:
11-72189782-CT-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.72189784del , CM000673.2:g.72189784del
GRCh38
NC_000011.9:g.71900828del , CM000673.1:g.71900828del
GRCh37
NC_000011.8:g.71578476del
NCBI36
NG_015863.1:g.5227del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000312293.9:c.-9+25del
ENSP00000308137.4:n.-9+25del
ENST00000312293.8:c.-9+25del
ENSP00000308137.4:n.-9+25del
ENST00000393681.6:c.-75+25del
ENSP00000377286.2:n.-75+25del
NM_016724.2:c.-75+25del
NP_057936.1:n.-75+25del
NM_016725.2:c.-9+25del
NP_057937.1:n.-9+25del
NM_016724.3:c.-75+25del
NP_057936.1:n.-75+25del
NM_016725.3:c.-9+25del
NP_057937.1:n.-9+25del
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