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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:
PA2828843874
Gene: SLC45A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
428598
ClinVar RCV Id:
RCV000492063
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366546.1:p.Ala8Val
CA570148
NM_001379617.1:c.23C>T