Canonical Allele Identifier: PA247141
Gene: COL11A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 198474
ClinVar RCV Id: RCV000179833 RCV001102151 RCV001102150 RCV003488432 RCV004539687
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_542196.2:p.Pro334Leu
CA247139
NM_080629.3:c.1001C>T