ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658817917
Gene: COL12A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
542500
ClinVar RCV Id:
RCV000652929
RCV001775942
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004361.3:p.Pro2564Ser
CA3892499
NM_004370.6:c.7690C>T