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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:
PA2826467718
Gene: GALT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
25267
ClinVar RCV Id:
RCV000180101
RCV000724474
RCV003502510
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001245261.1:p.Glu162Gly
CA247494
NM_001258332.2:c.485A>G