ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658670876
Gene: COL12A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
475849
ClinVar RCV Id:
RCV000538608
RCV001584350
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004361.3:p.Val633Phe
CA3894093
NM_004370.6:c.1897G>T