ClinGen Allele Registry
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Canonical Allele Identifier:
PA354723
Gene: COL1A1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000203035
RCV000224220
RCV000487429
RCV000659348
RCV001082142
RCV001124960
RCV001124961
RCV002277557
RCV002354572
ClinVar Variation:
218424
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000079.2:p.Pro205Ala
CA249240
NM_000088.4:c.613C>G