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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:
CA2614928335
Gene: FOLR1
HGNC
NCBI
Linked Data
gnomAD v4:
11-72189746-AC-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.72189748del , CM000673.2:g.72189748del
GRCh38
NC_000011.9:g.71900792del , CM000673.1:g.71900792del
GRCh37
NC_000011.8:g.71578440del
NCBI36
NG_015863.1:g.5191del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000312293.9:c.-20del
ENSP00000308137.4:n.-20del
ENST00000312293.8:c.-20del
ENSP00000308137.4:n.-20del
ENST00000393681.6:c.-86del
ENSP00000377286.2:n.-86del
NM_016724.2:c.-86del
NP_057936.1:n.-86del
NM_016725.2:c.-20del
NP_057937.1:n.-20del
NM_016724.3:c.-86del
NP_057936.1:n.-86del
NM_016725.3:c.-20del
NP_057937.1:n.-20del
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