ClinGen Allele Registry
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Canonical Allele Identifier:
PA658670918
Gene: COL12A1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000531413
RCV001420886
RCV002466535
RCV004024346
ClinVar Variation:
475869
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004361.3:p.Asn1538Ser
CA3893401
NM_004370.6:c.4613A>G