ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA145989
Gene: PCCA
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000078547
RCV000313421
RCV001699197
ClinVar Variation:
92761
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000273.2:p.Ile475Val
CA145988
NM_000282.4:c.1423A>G