ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827664661
Gene: PCCA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2130507
ClinVar RCV Id:
RCV003052115
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339536.1:p.Val350Ala
CA388695227
NM_001352607.2:c.1049T>C