ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827653712
Gene: HLCS
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000001988
RCV000185961
ClinVar Variation:
1911
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339446.1:p.Val550Met
CA278022
NM_001352517.1:c.1648G>A