ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828129424
Gene: MCPH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
158817
ClinVar RCV Id:
RCV000146270
RCV002515966
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350909.1:p.Val397Met
CA271672
NM_001363980.2:c.1189G>A