ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915994013
Gene: HCCS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
545079
ClinVar RCV Id:
RCV000656298
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005324.3:p.Pro54Leu
CA412054275
NM_005333.5:c.161C>T