ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA203990
Gene: COL12A1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
200693
ClinVar RCV:
RCV000186500
ClinVar Variation:
204296
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004361.3:p.Gly2786Asp
CA203989
NM_004370.6:c.8357G>A