ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825964832
Gene: PYGL
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000625936
RCV003311865
RCV003488738
RCV003917992
ClinVar Variation:
522775
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001157412.1:p.Pro348Leu
CA7183547
NM_001163940.2:c.1043C>T