ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916057164
Gene: COL12A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
475877
ClinVar RCV Id:
RCV000537883
RCV001509278
RCV001542757
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_542376.2:p.Val659Ile
CA3893123
NM_080645.3:c.1975G>A