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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:
CA2579370998
Gene: GALT
HGNC
NCBI
Linked Data
gnomAD v4:
9-34646613-CG-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.34646618del , CM000671.2:g.34646618del
GRCh38
NC_000009.11:g.34646615del , CM000671.1:g.34646615del
GRCh37
NC_000009.10:g.34636615del
NCBI36
NG_009029.1:g.4981del
NG_009029.2:g.5030del
Transcript Alleles
HGVS
Amino-acid change
ENST00000450095.6:c.-289del
ENSP00000401956.2:n.-289del
ENST00000605275.1:n.209-59del
NM_000155.3:c.-87del
NP_000146.2:n.-87del
NM_001258332.1:c.-289del
NP_001245261.1:n.-289del
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