ClinGen Allele Registry
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Canonical Allele Identifier:
PA658670957
Gene: COL12A1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
455918
ClinVar RCV:
RCV000532029
RCV001569986
RCV004526704
ClinVar Variation:
475888
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004361.3:p.Tyr2150His
CA3892808
NM_004370.6:c.6448T>C